Patient Stories

Luke's Story

My name is Lucas Oliver Moreland (Luke for short) and here is my introduction: I came about as scheduled, full term, (via C-section) on July 10th, 2013 after a wonderful, uncomplicated pregnancy for my mom.  My mom's doctor (delivering me) said, "My oh my, I have never seen this before!"  The umbilical cord was wrapped around my neck 5 times!  After they 'unwrapped' me, I was taken over to the side to get all washed up and weighed.  I weighed 7lbs and 15 oz.!!  The nurse cleaned me up and showed me off... My mom and dad were so happy about adding a boy to our family, my sister was happy too!  I was whisked away to the nursery with my dad following right behind me so that I could be further checked out and showed off to the rest of my family waiting outside the nursery window.  In the nursery, the nurses and my doctor looked me over very closely... it was there that they discovered I had some "interesting characteristics" as Dr. Bijon would say. 

Bonus #1:  I was born with what the Doctors thought was a Port Wine Stain- that covers a large portion of my body.   At birth I had a dark redish-purple birthmark (what was believed to be a port wine stain) between my eyes, under my nose, and on my bottom lip.  It has since faded to a lighter red.  I also had a large portion of my forehead that would change colors to a darker red when I got upset, it has also faded to a much lighter red.  I do still change colors sometimes though.  When I was only a few hours old it was also discovered that my hands, legs, and feet were a dark purple- bluish color.  At first it was thought that this was because I had low blood sugar but later we learned that actually the discoloration was due to acrocyanosis (which is an over exaggeration to hot and cold) it's harmless.  I do still change colors on my legs and arms, sometimes they are purple, sometimes more of a blue.  *What we now know, after Genetic testing, is that all of my "discolorations" and marbling are Capillary Malformations.

Bonus #2:  The right side of my body is larger than my left side. My right ear is bigger than my left, my right cheek bigger than the left, my arm, hand, leg, foot and even right booty cheek are all slightly larger than the left side. I have what is known as Complex or Total Hemihypertrophy (hemi).  This means that it involves only one side of the body from the head down.  At this time we aren't sure how this will affect my future and growth, I will have to address a leg length discrepancy at some point, but we will learn more as I grow and develop.

Bonus #3:  I have webbed toes!  I also have two webbed fingers on my larger right hand.  Webbed toes (or fingers) is the common name for syndactyly affecting the feet (or hands). It is characterized by the fusion of two or more digits. This is normal in many birds, such as ducks;  amphibians, such as frogs; and mammals, such as kangaroos.  In humans it is considered unusual, of course.  There are various levels of webbing, from partial to complete. Most commonly the second and third toes (as in my case) are webbed or joined by skin and flexible tissue. This can reach either part way up or nearly all the way up the toe.

Shortly after I was born and there were discussions about my medical conditions, my sister became a bit concerned and began asking a lot of questions.  Most of the questions were "Why?"  Why does my brother have this or that?  My mom simply explained that each of us are unique... God made each of us special, each of us different.  To make it more understandable, these differences became known as "bonuses".  Lots of people have bonuses!  That's what makes us so special in God's eyes.  The fun thing is that Alivia will see someone with something different about them and now respond, "It's just their bonus!"

On October 18th, 2013:  I began my "Adventures in Medicine"!   I met Dr. Dorothy K. Grange, an expert in overgrowth syndromes, at St. Louis Children's Hospital.   She looked me over thoroughly, she measured me all over too with her little tape measure!  She even took pictures of me for research purposes!  My weight and height were also checked, I weighed 16 lbs. and I was 2 feet tall.  After a lengthy visit she said, with certainty, that she believes I have a very rare syndrome called Megalencephaly-capillary malformation syndrome (M-CM or MCAP).
Dr. Grange ordered a lot more testing; to both confirm her diagnosis and to check out my insides.   Developmentally I am great and she measured the circumference of my head and it is average; however, since brain development can be an issue with this syndrome she said she'd like to do another MRI.  She also wanted to do another ultrasound of my kidneys, an echo-cardiogram of my heart, an eye test, and of course the genetic test to see if I have the "gene PIK3CA mutation", which will confirm her diagnosis. 
I underwent a whole day of testing on December 4th, 2013 and on January 7th, 2014, mom got a phone call from my genetic counselor at St. Louis Children's Hospital. My blood and saliva test results came back and did confirm the pik3ca gene mutation-- so now we know fore sure, I do have M-CM. I don't have any complications at this time, all my MRI, EEG, EKG, and Ultrasound tests came back with great results, (I am normal on the inside!) The right side of my brain as well as my right kidney are a slight bit bigger, but the doctors said that should be expected with the right side Hemi.  I will continue to have to have abdominal ultrasounds every 3 months and MRIs every 6 months until I am 3 yrs old just to monitor my insides and my growth. 

A note from my mom:
Luke is a wonderful blessing to our family in so many ways! 
I am thankful for such a wonderful network of other M-CM parents.  They have answered questions directly and indirectly. This will be a wonderful group to confer with, to understand what I'm going through, and to simply answer questions when the doctors in my very small town have no idea what I am talking about. I look forward to our future (To Luke's future) with a good feeling that I am not alone in any of this and to just a click away. ~Stephanie Moreland
Our website was created to help keep my family and friends informed about my bonuses (medical conditions) which tend to be both rare and unknown by a lot of people.  Anyone can check it out at--

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About Heidi Heidi Frost lives in the United Kingdom. She is married with three children. The eldest, Jack, was pre-natally diagnosed with profound disabilities when Heidi was 28 weeks pregnant, although he was 8 years old before he was correctly diagnosed with M-CM. Jack is now 17.

Heidi is a full time Mum to Jack and his siblings, and spends her time caring for Jack, attending medical appointments and negotiating the minefield of obtaining necessary services for her son.

Heidi created a website about Jack in 2005 and found that telling Jack’s story was an incredibly positive and healing experience and she is looking forward to assisting other M-CM families to do the same. In her spare time she enjoys writing about her life with Jack on her website and spending time with her husband and children.